Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999996700742      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs4294 (probable pathogenic)
  • known disease mutation at this position (HGMD CM057088)
  • known disease mutation at this position (HGMD CM940816)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:155205517T>AN/A show variant in all transcripts   IGV
HGNC symbol GBA
Ensembl transcript ID ENST00000428024
Genbank transcript ID NM_001171811
UniProt peptide P04062
alteration type single base exchange
alteration region CDS
DNA changes c.1082A>T
cDNA.1585A>T
g.9137A>T
AA changes D361V Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 361
frameshift no
known variant Reference ID: rs77369218
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs4294 (probable pathogenic for Gaucher's disease, type 1|Subacute neuronopathic Gaucher's disease|Gaucher disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057088)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940816)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0020.994
2.441
(flanking)4.6781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased9135wt: 0.9972 / mu: 0.9972 (marginal change - not scored)wt: ACCAAGGACACGTTT
mu: ACCAAGGTCACGTTT		 CAAG|gaca
Donor increased9129wt: 0.64 / mu: 0.72wt: GACATCACCAAGGAC
mu: GACATCACCAAGGTC		 CATC|acca
Donor increased9130wt: 0.73 / mu: 0.96wt: ACATCACCAAGGACA
mu: ACATCACCAAGGTCA		 ATCA|ccaa
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      361VDSPIIVDITKDTFYKQPMFYHLG
mutated  not conserved    361VTFYKQPMFYHL
Ptroglodytes  all identical  ENSPTRG00000001416  448DTFYKQPMFYHL
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028048  427DAFYKQPMFYHL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000010884  434DVFYKQPTFYSM
Drerio  all identical  ENSDARG00000076058  430VDSPIIVDPSKDIF
Dmelanogaster  all conserved  FBgn0051148  475VDAPVIVNTTTFEEFYKQPMFYA
Celegans  not conserved  Y4C6B.6  429VDSTIIVNATAQEYYKQPIWHVM
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
359369HELIXlost
373381STRANDmight get lost (downstream of altered splice site)
379379ACT_SITENucleophile.might get lost (downstream of altered splice site)
379379MUTAGENE->G: Decreases activity 1000-fold.might get lost (downstream of altered splice site)
386388STRANDmight get lost (downstream of altered splice site)
396411HELIXmight get lost (downstream of altered splice site)
414424STRANDmight get lost (downstream of altered splice site)
426428STRANDmight get lost (downstream of altered splice site)
440444STRANDmight get lost (downstream of altered splice site)
445447HELIXmight get lost (downstream of altered splice site)
449452STRANDmight get lost (downstream of altered splice site)
454463HELIXmight get lost (downstream of altered splice site)
470470CONFLICTS -> I (in Ref. 15; AA sequence).might get lost (downstream of altered splice site)
471479STRANDmight get lost (downstream of altered splice site)
482489STRANDmight get lost (downstream of altered splice site)
495501STRANDmight get lost (downstream of altered splice site)
501501CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
503505STRANDmight get lost (downstream of altered splice site)
507513STRANDmight get lost (downstream of altered splice site)
514516TURNmight get lost (downstream of altered splice site)
517523STRANDmight get lost (downstream of altered splice site)
527533STRANDmight get lost (downstream of altered splice site)
534534CONFLICTR -> H (in Ref. 1; AAA35873).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1350 / 1350
position (AA) of stopcodon in wt / mu AA sequence 450 / 450
position of stopcodon in wt / mu cDNA 1853 / 1853
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 504 / 504
chromosome 1
strand -1
last intron/exon boundary 1748
theoretical NMD boundary in CDS 1194
length of CDS 1350
coding sequence (CDS) position 1082
cDNA position
(for ins/del: last normal base / first normal base)		 1585
gDNA position
(for ins/del: last normal base / first normal base)		 9137
chromosomal position
(for ins/del: last normal base / first normal base)		 155205517
original gDNA sequence snippet CATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCA
altered gDNA sequence snippet CATTGTAGACATCACCAAGGTCACGTTTTACAAACAGCCCA
original cDNA sequence snippet CATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCA
altered cDNA sequence snippet CATTGTAGACATCACCAAGGTCACGTTTTACAAACAGCCCA
wildtype AA sequence MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEACVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
DTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
mutated AA sequence MELSMGPIQA NHTGTGLLLT LQPEQKFQKV KGFGGAMTDA AALNILALSP PAQNLLLKSY
FSEEGIGYNI IRVPMASCDF SIRTYTYADT PDDFQLHNFS LPEEDTKLKI PLIHRALQLA
QRPVSLLASP WTSPTWLKTN GAVNGKGSLK GQPGDIYHQT WARYFVKFLD AYAEHKLQFW
AVTAENEPSA GLLSGYPFQC LGFTPEHQRD FIARDLGPTL ANSTHHNVRL LMLDDQRLLL
PHWAKVVLTD PEAAKYVHGI AVHWYLDFLA PAKATLGETH RLFPNTMLFA SEACVGSKFW
EQSVRLGSWD RGMQYSHSII TNLLYHVVGW TDWNLALNPE GGPNWVRNFV DSPIIVDITK
VTFYKQPMFY HLGHFSKFIP EGSQRVGLVA SQKNDLDAVA LMHPDGSAVV VVLNRSSKDV
PLTIKDPAVG FLETISPGYS IHTYLWRRQ*
speed 0.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project